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Health | Neon infections of rare diseases: French delay

France, since being a pioneer in the 1970s, continues to diagnose the birth of rare diseases. Associations on Thursday dedicated to these diseases XII. They regretted the International Day.

"Sweden, Austria has 24 illnesses, more than a dozen Belgians (11 in Flanders, 13 Waloni), while France is only born with five serious illnesses (the corpse is getting bigger), Nathalie Triclin, Alliance des maladies raras- president says.

Spain, Iceland, Hungary and Portugal show more than 15 pathologies, adding AFM-Telethon.

The cost of this projection (8.6 million euros per year or 11 euros per newborn) does not indicate a delay, but Mrs. Triclin's "rather than revealing the poor organization of the French system" to renew its extreme dampness.

This situation is a "loss of opportunity" to prevent or limit the damage to the disease, genetic counseling (for other children), access to available treatment or where it is reached in the market, or hopeful therapeutic trials, have argued.

"For example, the 2011 High Health Authority recommends a rare genetic illness disease, deficiency in the MCAD (enzyme) and has not yet been applied."

This illness, due to the inability to use certain fat as a source of energy, causes coma and death a banal infection, hot weather and bottles too far. Neonatal surgery, and proper diet with sugars, can prevent neurological sequences.

"It is necessary to advance the therapeutic progress," says Christian Cottet, CEO of AFM-Téléthon. In the case of serious forms of childhood atrophic muscle in children (over two-year-olds), breastfeeding can be found in newborns, such as beneficial gene therapy, he says.

Among other genetic diseases (Sweden, Austria …), Professor Jean-Louis Mandel, the Foundation's Rare Disease Foundation, called the Tyrosinemic Type 1, which is labeled as a blood-borne disease, can cause liver destruction and death and is a drug.

– "Obstacle Course" –

In France, three million people have rare diseases, of which 80% have genetic origin. Another screening (NND) has been selected since 1972, with five pathologies that seek more than 25,000 children.

Fenilketonuria (since 1972) and congenital hypothyroidism (since 1978) has helped prevent screening from severe mental retardation. DNN is based on the function of the gland that causes the kidney and glands (adrenal hypertrophy creator), cell anemia (or disease disease) and cystic fibrosis.

It takes some blood drops of blood when it is small in the heel of the newborn, stored in a blotter.

Still, techniques are rapidly evolving. The "French Genomic Medicine 2025" plan, launched in 2016, should provide access to genome sequencing tools. "Two of the two platforms in Paris and Lyon (the twelve years announced in 2016) will soon work," says Pr. Hélène Dollfus, expert center coordinator.

The goal is also to treat patients of different ages.

"More than one completed patient needed six years to diagnose," said Bernard Delorme, according to rare illness data. He speaks of an "obstacle course".

Sophie Morel, the mother of the 14-year-old son's mother, has said this week before the testimony and still "struggles", but is still awaiting a pathological name.

3. The rare diseases plan, the genomic plan and the bioethics laws hope to have more DNN diseases.

The evidence of progress in this area: a genetic study in Strasbourg found a solution, a nicotine patch, a non-extracurricular child, because epilepsy was very rare; To sleep (20 seizures of the disease), Jean-Louis Mandel describes the geneticist.

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